| Disease ID | Source | Name | Description |
| 618511 | OMIM | Neuropathy, hereditary motor and sensory, 6C, with optic atrophy (HMSN6C) | An autosomal recessive neurologic disorder characterized by childhood onset of axonal, sensorimotor polyneuropathy affecting mainly the lower limbs, and adult-onset optic atrophy. Clinical features include progressive distal muscle weakness and atrophy, significant standing and walking difficulties, areflexia, neurogenic pain and progressive visual impairment. The disease is caused by variants affecting the gene represented in this entry. |